ELOVL1

ELOVL1 (ELOVL Fatty Acid Elongase 1) is a Protein Coding gene. Among its related pathways are Fatty Acyl-CoA Biosynthesis and alpha-linolenic acid (ALA) metabolism. Gene Ontology (GO) annotations related to this gene include fatty acid elongase activity. An important paralog of this gene is ELOVL7.

ELOVL Fatty Acid Elongase 1

Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246).

This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis (PubMed:20937905).

Indirectly inhibits RPE65 via production of VLCFAs.

Alpha-linolenic acid metabolic process Source: Reactome
Ceramide biosynthetic process Source: Ensembl
Establishment of skin barrier Source: Ensembl
Fatty acid elongation, monounsaturated fatty acid Source: UniProtKB
Fatty acid elongation, polyunsaturated fatty acid Source: GO_Central
Fatty acid elongation, saturated fatty acid Source: UniProtKB
Linoleic acid metabolic process Source: Reactome
Long-chain fatty-acyl-CoA biosynthetic process Source: Reactome
Sphingolipid biosynthetic process Source: UniProtKB
Unsaturated fatty acid biosynthetic process Source: UniProtKB-UniRule
Very long-chain fatty acid biosynthetic process Source: UniProtKB

Endoplasmic reticulum membrane

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD):
An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features.